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Protocol Details

Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)

Pregnant Women;


Genetics and Germline Mutations;
Familial Background;
Inherited Cancer Syndrome;
Germline Mutation in the CDH1 Gene;
Lobular Breast Cancer;
Natural History

Recruitment Keyword(s)



Stomach Neoplasms;
Stomach Cancer;
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS);
Hereditary Diffuse Gastric Cancer (HDGC);
Familial diffuse gastric cancer

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Cancer Institute


Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers. They want to learn about changes these cause in the body and about the genes involved.


-To gather data about hereditary gastric cancer.


-People at least 2 years old with personal or family history with a hereditary gastric cancer.

-People at least 2 years old with gene changes that lead to such cancer or a lesion that may be hereditary.


-Participants will be screened in a separate protocol.

-Participants will have:

--Physical exam

--Medical history

--Blood tests


--Photos of skin lesions and other findings

--Gynecology consultation for women

--Cheek swab (some participants)

-For some participants, their relatives will be asked to join the study.

-Some participants will be asked to allow the study to get stored tissue samples for relatives who have died.

-Some samples will be sent to outside labs. All personal data will be protected. Samples will be destroyed when the study ends.

-Participants will get the results of genetic testing.

-Participants who cannot come to the NIH clinic may just give a cheek swab and have genetic testing done.

-Some participants will be contacted for more testing.

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1. An individual, or their family members, with any of the following:

-Fulfills clinical criteria for Hereditary Diffuse Gastric Cancer (HGDC) syndrome or Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) syndrome.

-Clinically suspicious personal or family medical history of gastric cancer or gastric cancer syndrome that warrants genetics evaluation.

-Current diagnosis of gastric cancer and a germline mutation associated with a known cancer syndrome or an associated family history of gastric cancer.

-Harbors a pathogenic germline mutation known to predispose to gastric cancer.

-First-degree relatives, regardless of family history or personal history of cancer, with a documented deleterious germline mutation (including but not limited to CDH1, CTNNA1, SDH) known to predispose to gastric tumors.

-Diagnosis or suspicion of a premalignant or malignant stomach lesion of suspected hereditary etiology.

2. Age >= 2 years and older. Note: Patients under 18 years of age may only participate in research sample collection if the tissue acquisition is performed during a clinically indicated surgical procedure, and the sampling of tissue, blood, saliva or urine collection does not add risk to the clinically indicated procedures.

3. Ability of subject or legally authorized representative (LAR) to understand and the willingness to sign a written informed consent document.



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Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. Erratum in: JAMA Oncol. 2015 Apr;1(1):110.

Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C; International Gastric Cancer Linkage Consortium.. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul;47(7):436-44. doi: 10.1136/jmg.2009.074237. Erratum in: J Med Genet. 2011 Mar;48(3):216. Van Krieken, Nicola [corrected to Van Grieken, Nicola C].

van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015 Jun;52(6):361-74. doi: 10.1136/jmedgenet-2015-103094.

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Principal Investigator

Referral Contact

For more information:

Jeremy L. Davis, M.D.
National Cancer Institute (NCI)
NIHBC 10 - CRC BG RM 4-3742
(240) 858-3731

Jamie Kirkpatrick, R.N.
National Cancer Institute (NCI)

(240) 760-7533

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


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